Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.78223510G>T | CA401214791 | BIRC5 | c.385G>T (p.Glu129Ter) c.454G>T (p.Glu152Ter) c.267G>T (p.Arg89=) n.401G>T c.*187G>T (n.*187G>T) n.587G>T n.656G>T | dbSNP |
17 | g.78223510G>C | CA401214788 | BIRC5 | c.385G>C (p.Glu129Gln) c.454G>C (p.Glu152Gln) c.267G>C (p.Arg89=) n.401G>C c.*187G>C (n.*187G>C) n.587G>C n.656G>C | dbSNP gnomAD v4 |
17 | g.78223510G>A | CA8798632 | BIRC5 | c.385G>A (p.Glu129Lys) c.454G>A (p.Glu152Lys) c.267G>A (p.Arg89=) n.401G>A c.*187G>A (n.*187G>A) n.587G>A n.656G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |